Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv4666050

Organism: Homo sapiens

Study:nstd186 (NCBI Curated Common Structural Variants)
Variant Type:copy number variation
Method Type:Curated
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:11,034

Description:esv3818496 from 1000 Genomes Consortium Phase 3 Integrated SV. For a full list of variants now included in nstd186, refer to the mapping file provided here.

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 536 SVs from 78 studies. See in: genome view

Remapped(Score: Perfect):16,044,125-16,055,158

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4666050	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	16,044,125	16,055,158
nsv4666050	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	16,370,620	16,381,653

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16205872	copy number gain	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16205872	Remapped	Perfect	NC_000001.11:g.160 44125_16055158dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,044,125	16,055,158
nssv16205872	Submitted genomic		NC_000001.10:g.163 70620_16381653dup	GRCh37 (hg19)		NC_000001.10	Chr1	16,370,620	16,381,653

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv16205872	0.011	57	5008

You are here: NCBI